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#1
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02-27-2010, 04:03 PM
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Neu-Laxova Syndrome (Neu Laxova Syndrome)
Neu-Laxova syndrome is a rare inherited disorder that causes severe malformations and usually results in death before birth or shortly afterward. Features include restricted growth, an unusually small head, a small jaw, a short neck, scaly skin and joint contractures. Excessive tissue beneath the skin accompanied by swelling is a hallmark. The condition follows an autosomal-recessive inheritance pattern. In 2014, researchers identified mutations in three genes involved in producing L-serine: PHGDH, PSAT1 and PSPH. Neu-Laxova syndrome represents the severe end of serine-deficiency disorders. About 40 cases had been reported by 2002. |
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#10
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03-04-2010, 07:20 AM
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Re: Neu-Laxova Syndrome (Neu Laxova Syndrome)
Here's another one. They're pretty unsettling to look at, huh? Almost as bad as harlequin babies. Luckily they're usually stillborn or die quickly. Well, not lucky to have that condition at all, but if you're going to have it, better to suffer for the shortest time possible. Are they full of fluid or gas or something? |